Evidence map›Paper›PMID 30823903›Full record

ArticleBMC cancer2019

The contribution of the rs55705857 G allele to familial cancer risk as estimated in the Utah population database.

Sarah Hummel, Wendy Kohlmann, Thomas M Kollmeyer, Robert Jenkins, Joshua Sonnen, Cheryl A Palmer, Howard Colman, Diana Abbott, Lisa Cannon-Albright, Adam L Cohen

Open access · goldAbstract read
In one paragraph

Article in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 40% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 1 country.

Sarah HummelDepartment of Human Genetics/Pediatric Division of Medical Genetics, Graduate Program in Genetic Counseling, University of Utah School of Medicine, 15 North 2030 East, Salt Lake City, 84112, Utah, USA. sarah.hummel1@va.gov.ORCID http://orcid.org/0000-0003-4857-1315
Wendy KohlmannDepartment of Population Sciences, University of Utah School of Medicine, Huntsman Cancer Institute, Salt Lake City, Utah, USA.
Thomas M KollmeyerThe Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.
Robert JenkinsThe Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA.
Joshua SonnenDivision of Anatomic Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Cheryl A PalmerDivision of Anatomic Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Howard ColmanDepartment of Neurosurgery, University of Utah School of Medicine, Huntsman Cancer Institute, Salt Lake City, Utah, USA.
Diana AbbottDivision of Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Lisa Cannon-AlbrightGeorge E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, Utah, USA.
Adam L CohenDivision of Oncology, University of Utah School of Medicine, Huntsman Cancer Institute, Salt Lake City, Utah, USA.
University of Utah · USMayo Clinic · US

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6M
Huntsman Cancer Institute, Huntsman Cancer Foundation, University of Utah, and National Cancer Institute of the NIH P30CA42014NCI NIH HHS P30 CA042014University of Utah School of Medicine, Department of Human Genetics/Pediatric Division of Medical Genetics, Graduate Program in Genetic Counseling NA/Student ResearchUtah Cancer Registry, National Cancer Institute's SEER, Utah State Department of Health, University of Utah Contract No. HHSN261201300017I
6 · The paper itself

Abstract

backgroundIDH1/2 mutated glioma has been associated with a germline risk variant, the rs55705857 G allele. The Utah Population Database (UPDB), a computerized genealogy of people in Utah, is a unique resource to evaluate cancer risk in related individuals.

methodsOne hundred and two individuals with IDH1/2 mutant or 1p/19q co-deleted glioma were genotyped and linked to the UPDB. DNA came from blood (21), tumor tissue (43), or both (38). We determined congruence between somatic and germline samples and estimated the relative risk for developing cancer to first and second-degree relatives of G and A allele carriers at rs55705857.

resultsSomatic (glioma) DNA had 85.7% sensitivity (CI 57.2-98.2%) and 95.8% specificity (CI 78.9-99.89%) for germline rs55705857 G allele. Forty-one patients were linked to pedigrees in the UPDB with at least three generations of data. First-degree relatives of rs55705857 G allele carriers were at significantly increased risk for developing cancer (RR = 1.72, p = 0.045, CI 1.02-2.94), and specifically for oligodendroglioma (RR = 57.61, p = 0.017, CI 2.96-320.98) or prostate cancer (RR = 4.10, p = 0.008, CI 1.62-9.58); relatives of individuals without the G allele were not at increased risk. Second-degree relatives of G allele carriers also had significantly increased risk for developing cancer (RR = 1.50, p = 0.007, CI 1.15-2.01).

conclusionsTumor DNA may approximate genotype at the rs55705857 locus. We confirmed this locus confers an increased risk of all cancers and especially of oligodendroglioma. No increased cancer or brain tumor risk is seen in family members of individuals without the high-risk G allele.

Indexed as

AllelesAstrocytomaBrain NeoplasmsChromosomes, Human, Pair 8Colorectal NeoplasmsDatabases, FactualFamilyFemaleGenetic Predisposition to DiseaseGerm-Line MutationGliomaHomozygoteHumansInformation Storage and RetrievalIsocitrate DehydrogenaseMaleIDH1 protein, humanIDH2 protein, humanIsocitrate DehydrogenaseCancerIDHMolecular epidemiologyOligodendrogliomars55705857

Identifiers

PMID30823903
PMCPMC6397494
OpenAlexW2923760383

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.